Friday, June 8, 2012

Being genetically counselled

I had made an appointment to see a genetic counsellor about 3 months ago and the time came this week. I hadn't really given much thought to it to be honest. The main reason I went was to do genetic testing to find out if I actually have the known Stargardt's mutated gene, as I feel like it will be the final thing in accepting my diagnosis, even though I know I do have it.

So I went along to my appointment not knowing what to expect. Normally when I am seeing a doctor I have what I want to know planned out. This time I was under prepared for my usual standards.

The genetic counsellor was really great; she had easy to understand diagrams that showed the most likely way I inherited Stargardt's, and then showed me possibilities of when I have children. The good news is that the chances of my partner being a carrier is quite rare, and thus it's likely my children won't have any chance of inheriting Stargardt's. There's the possibility of testing my partner in future to see if he is a carrier, but to be honest I don't think it would matter because it wouldn't affect my decision to have children if they were at risk. I cope well and have a great life!

The other question is whether to test my younger siblings. There's currently two debates in my household
1. There's not point in knowing because you can't stop it or change it
2. If you knew you could make decisions about careers etc and also use preventative measures like wearing sunglasses at all time and so forth.

It's a hard decision and there will be more debates in our home.

So I have to give blood and it will be sent to the US for testing which will take a few months, which is not good for someone like me who is so impatient.

Sunday, June 3, 2012

Bionic Eye

Have a look at this recent video on the bionic eye. It's crazy how maazing technology can be.

Increasing my magnification

As I have mentioned I use Zoomtext on my work and home computers. I have been using it a x2 magnification since I first got it, especially since I didn't like to slide all over the place too much. Recently I have noticed that I am leaning quite close to the computer to read. I didn't want to admit that I probably needed to increase my magnification.

I persevered for a while, but finally thought I'd give it a go just to see what it was like. So I increased the magnification to x3. What a difference it made. I had to slide across the screen more at work, although I could stay put in my chair and not be leaning in touching the screen with my nose!

I'll admit I'm in denial. I didn't want to increase the magnification because then I'd have to awknowledge my eyes are becoming worse. I know it's silly because it would reduce my strain but it is really hard to accept!!!

I also get slightly paranoid, especially at work, as my screen is so large anybody can read what I'm doing (not that I am ever doing anything wrong!), but it's just uncomfortable knowing that if someone looked over they could read it easily.

Of course I've kept my Zoomtext at x2. I'm really quite stubborn.